Characteristics of 10 aplastic anemia patients with chromosomal abnormalities
| Patient . | Age, y/Sex . | Karyotype at Dx . | Tx . | F/U cytogenetics . | Time from Dx (mo) . | Evolution to MDS . |
|---|---|---|---|---|---|---|
| 1 | 37/F | 48,XX,+8,+9[20] | BMT | 48,XX,+8,+9[20], 46,XY[20] (BMT) | 5 | — |
| 2 | 15/F | 47,XX,+8[10]/46,XX[1] | IST | 47,XX,+8[15]/46,XX[5] | 53 | +* |
| 3 | 65/F | 47,XX,+8,22pss[20] | CON | ND | 16 | — |
| 4 | 41/M | 46,XY,t(8;21)(q22;q22)[1]/46,XY[10] | CON | ND | NA | — |
| 5 | 12/M | 46,XY,inv(16)(p13.1q22)[2]/46,XY[3] | CON | 46,XY[20] | 33 | — |
| 6 | 29/F | 46,XX,t(X;19)(p11.2;q11)[7] | CON | ND | 18 | — |
| 7 | 15/F | 46,XX,t(4;14)(p10;p10)[4]/46,XX[16] | BMT | 46,XY[20] (BMT) | 35 | — |
| 8 | 71/F | 46,XX,del(10)(p13)[4]/46,XX[18] | IST | ND | 41 | — |
| 9 | 55/M | 45,X,−Y[6]/45,XY,−10[3]/46,XY[11] | IST | ND | 26 | — |
| 10 | 26/F | 2.5% Trisomy 8 (FISH) | BMT | 46,XX[1]/46,XY[19] (BMT) | 27 | — |
| Patient . | Age, y/Sex . | Karyotype at Dx . | Tx . | F/U cytogenetics . | Time from Dx (mo) . | Evolution to MDS . |
|---|---|---|---|---|---|---|
| 1 | 37/F | 48,XX,+8,+9[20] | BMT | 48,XX,+8,+9[20], 46,XY[20] (BMT) | 5 | — |
| 2 | 15/F | 47,XX,+8[10]/46,XX[1] | IST | 47,XX,+8[15]/46,XX[5] | 53 | +* |
| 3 | 65/F | 47,XX,+8,22pss[20] | CON | ND | 16 | — |
| 4 | 41/M | 46,XY,t(8;21)(q22;q22)[1]/46,XY[10] | CON | ND | NA | — |
| 5 | 12/M | 46,XY,inv(16)(p13.1q22)[2]/46,XY[3] | CON | 46,XY[20] | 33 | — |
| 6 | 29/F | 46,XX,t(X;19)(p11.2;q11)[7] | CON | ND | 18 | — |
| 7 | 15/F | 46,XX,t(4;14)(p10;p10)[4]/46,XX[16] | BMT | 46,XY[20] (BMT) | 35 | — |
| 8 | 71/F | 46,XX,del(10)(p13)[4]/46,XX[18] | IST | ND | 41 | — |
| 9 | 55/M | 45,X,−Y[6]/45,XY,−10[3]/46,XY[11] | IST | ND | 26 | — |
| 10 | 26/F | 2.5% Trisomy 8 (FISH) | BMT | 46,XX[1]/46,XY[19] (BMT) | 27 | — |
Dx indicates diagnosis; Tx, treatment; F/U, follow-up; MDS, myelodysplastic syndrome; F, female; BMT, bone marrow transplantation; AA, aplastic anemia; IST, immunosuppressive therapy; CON, conservative therapy; ND, not done; M, male.
Bone marrow findings: some clusters of megakaryocytes with nuclear atypism and immature granulocytic cells.